Let’s explore “Hirschsprung’s disease & genetics”

The genetic-architecture chapter explains that S-adenosylmethionine (SAM) donates methyl groups and becomes S-adenosylhomocysteine (SAH).

FOLR1 encodes folate receptor alpha, which helps cells take up folate and has an important role in folate transport at the brain’s barriers. Blood folate and folate availability in the nervous system are not identical measurements.

GSTO1 belongs to the omega family of glutathione S-transferases. These enzymes participate in redox chemistry, with roles that differ from the better-known GSTM1 and GSTP1 pathways.

NOS3 encodes endothelial nitric oxide synthase, which helps blood vessels generate nitric oxide, a signal involved in vascular relaxation. This pathway is distinct from a blood pressure measurement or a diagnosis of vascular disease.

SOD1 helps convert superoxide inside cells as part of the body’s antioxidant defenses.

SOD2 works in mitochondria as part of the body’s antioxidant defenses.

SOD3 works outside cells as part of the body’s antioxidant defenses.

GSTO2 encodes glutathione S-transferase omega 2, a redox enzyme with dehydroascorbate reductase activity that connects glutathione chemistry with vitamin C recycling. It is a separate gene from GSTO1.

Dr. Purser’s subscriber report on PAI-1 4G/5G, homocysteine, and brain infarct risk. Read the report on Substack.

Dr. Purser’s subscriber report on MAO-A, genetic terminology, and the anxiety-related questions discussed in the public introduction.

Dr. Purser’s subscriber report on IL-10 dysregulation, immune signaling, and his discussion of the VARS Antioxidant Triad.

Dr. Purser’s subscriber report on IL-17, homozygosity, and the skin, joint, and digestive topics raised in the public introduction.